Prenatal Genetic and Metabolic Testing and Screening
Unborn babies with congenital anomalies have an increased risk for an underlying genetic syndrome . That ’ s why genetic counseling is part of all new patient visits at the Colorado Fetal Care Center . Our genetic counselors work with families and the care team to order and interpret genetic testing when a genetic syndrome may be a possibility .
Mothers who deliver a baby with a known genetic disorder can follow up with medical genetics after delivery , while still in our Neonatal Intensive Care Unit or Cardiac Intensive Care Unit . From there , Children ’ s Colorado offers an array of clinics devoted to specific genetic syndromes , including 22q11.2 deletion syndrome , Down syndrome , sex chromosome aneuploidies , neurogenetics , pediatric genetics , skeletal dysplasia and many others . Many of these clinics provide prenatal consults , offering a seamless transition between pre and postnatal care .
We offer all available genetic testing options , from routine screening to complex diagnostic chromosomal microarray and syndrome-specific sequencing panels . We also have embraced new technology such as prenatal whole-exome sequencing , neonatal whole-exome and genome sequencing , and genome-wide cfDNA screening , as well as cfDNA screening for single gene disorders .
Screening tests
• cfDNA
• Common aneuploidies
• Genome-wide
• Single gene disorders
• Carrier screening
• Cystic fibrosis
• Spinal muscular atrophy
• Fragile X syndrome
• Expanded carrier screening
8 | Overview